Results 21 to 30 of about 33,127 (201)

Primary constitutional MLH1 epimutations: a focal epigenetic event [PDF]

, 2020
BACKGROUND: Constitutional MLH1 epimutations are characterised by monoallelic methylation of the MLH1 promoter throughout normal tissues, accompanied by allele-specific silencing.
Canet Hermida, Júlia, Rueda, Daniel, Hitchins, Megan, Turchetti, Daniela, Alonso, Ángel, Capellá, G. (Gabriel), Marín, Fátima, Genuardi, Maurizio, Pineda Riu, Marta, Castillejo, Adela, Arias, María del Mar, Campos, Olga, Soto, Jose Luis, Fernández, Anna, Lázaro García, Conxi, Navarro, Matilde, Dámaso, Estela, Valle Domínguez, Jesús del, García Díaz, Juan de Dios   +18 more
core   +4 more sources

mlh3 mutations in baker's yeast alter meiotic recombination outcomes by increasing noncrossover events genome-wide. [PDF]

PLoS Genetics, 2017
Mlh1-Mlh3 is an endonuclease hypothesized to act in meiosis to resolve double Holliday junctions into crossovers. It also plays a minor role in eukaryotic DNA mismatch repair (MMR).
Najla Al-Sweel, Vandana Raghavan, Abhishek Dutta, V P Ajith, Luigi Di Vietro, Nabila Khondakar, Carol M Manhart, Jennifer A Surtees, K T Nishant, Eric Alani   +9 more
doaj   +1 more source

A modified screening strategy for Lynch syndrome among MLH1-deficient CRCs: Analysis from consecutive Chinese patients in a single center

Translational Oncology, 2021
Background: The low prevalence of the BRAF V600E mutation in colorectal cancers (CRCs) in Chinese populations has stimulated concern about the efficacy of BRAF mutation analysis for Lynch syndrome (LS) screening.
Wenmiao Wang, Jianming Ying, Susheng Shi, Qiurong Ye, Shuangmei Zou, Lin Dong, Ning Lyu   +6 more
doaj   +1 more source

C-terminal fluorescent labeling impairs functionality of DNA mismatch repair proteins [PDF]

, 2012
The human DNA mismatch repair (MMR) process is crucial to maintain the integrity of the genome and requires many different proteins which interact perfectly and coordinated.
Hinrichsen, Inga Malena, Stefan Zeuzem, Hinrichsen Inga, Sandra Passmann, Plotz Guido, Adam, Ronja Sophia Mercedes, Plotz, Guido, Zeuzem Stefan, Guido Plotz, Passmann, Sandra, Angela Brieger, Ronja Adam, Brieger, Angela, Inga Hinrichsen, Brieger Angela, Passmann Sandra, Adam Ronja, Zeuzem, Stefan   +17 more
core   +2 more sources

Targeting mitochondrial DNA polymerase gamma for selective inhibition of MLH1 deficient colon cancer growth.

PLoS ONE, 2022
Synthetic lethality in DNA repair pathways is an important strategy for the selective treatment of cancer cells without harming healthy cells and developing cancer-specific drugs. The synthetic lethal interaction between the mismatch repair (MMR) protein,
Berna Somuncu, Aysegul Ekmekcioglu, Fatma Merve Antmen, Tugce Ertuzun, Emre Deniz, Nazli Keskin, Joon Park, Ilgu Ece Yazici, Busra Simsek, Batu Erman, Whitney Yin, Burak Erman, Meltem Muftuoglu   +12 more
doaj   +3 more sources

Extended microsatellite analysis in microsatellite stable, MSH2 and MLH1 mutation-negative HNPCC patients: Genetic reclassification and correlation with clinical features [PDF]

, 2004
Background: Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant disorder predisposing to predominantly colorectal cancer (CRC) and endometrial cancer frequently due to germline mutations in DNA mismatch repair (MMR) genes, mainly ...
Gross, M., Lohse, P., Muders, M., Müller-Koch, Y., Daum, J., Mussack, T., Baretton, G., Kopp, R., Schiemann, Uwe, Holinski-Feder, E.   +9 more
core   +1 more source

MLH1 Methylation-Based Testing in Peripheral Blood Mononuclear Cells is a Promising Biomarker for Colorectal Cancer Diagnosis and Prognosis [PDF]

Middle East Journal of Cancer
Background: Recent evidence has shown that peripheral blood mononuclear cells (PBMCs) can reflect the epigenetic profile of tissues they interact with, such as malignant cells. The hypermethylation of MLH1 promoter is a well-defined epigenetic alteration
Farzaneh Yousefisadr, Meysam Mosallaei, Shahryar Sadeghi, Hassan Mehrad-Majd, Ali Beheshti Namdar   +4 more
doaj   +1 more source

Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington's disease mice: genome-wide and candidate approaches. [PDF]

PLoS Genetics, 2013
The Huntington's disease gene (HTT) CAG repeat mutation undergoes somatic expansion that correlates with pathogenesis. Modifiers of somatic expansion may therefore provide routes for therapies targeting the underlying mutation, an approach that is likely
Ricardo Mouro Pinto, Ella Dragileva, Andrew Kirby, Alejandro Lloret, Edith Lopez, Jason St Claire, Gagan B Panigrahi, Caixia Hou, Kim Holloway, Tammy Gillis, Jolene R Guide, Paula E Cohen, Guo-Min Li, Christopher E Pearson, Mark J Daly, Vanessa C Wheeler   +15 more
doaj   +1 more source

Investigation of APC, MLH1 and MSH2 Mutations in Patients with Hereditary Colorectal Carcinoma: A Single Center Experience

, 2021
Aim:Colorectal cancer (CRC) is the third most common cancer in the world. About 5-6% of all CRCs have a hereditary inheritance related with germline mutations.
Mehmet Buğrahan Düz
core   +1 more source

Inhibition of ABL1 by tyrosine kinase inhibitors leads to a downregulation of MLH1 by Hsp70-mediated lysosomal protein degradation

Frontiers in Genetics, 2022
The DNA mismatch repair (MMR) pathway and its regulation are critical for genomic stability. Mismatch repair (MMR) follows replication and repairs misincorporated bases and small insertions or deletions that are not recognized and removed by the ...
Hannah G. Daniels, Breanna G. Knicely, Anna Kristin Miller, Ana Thompson, Ana Thompson, Rina Plattner, Rina Plattner, Eva M. Goellner, Eva M. Goellner   +8 more
doaj   +1 more source